Abstract
Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is < 5 in 10,000 live-births. The etiology is unknown although clinical, genetic and experimental evidence points to disturbances in the retinoid-signaling pathway during organogenesis. Antenatal diagnosis is often made and this allows prenatal management (open correction of the hernia in the past and reversible fetoscopic tracheal obstruction nowadays) that may be indicated in cases with severe lung hypoplasia and grim prognosis. Treatment after birth requires all the refinements of critical care including extracorporeal membrane oxygenation prior to surgical correction. The best hospital series report 80% survival but it remains around 50% in population-based studies. Chronic respiratory tract disease, neurodevelopmental problems, neurosensorial hearing loss and gastroesophageal reflux are common problems in survivors. Much more research on several aspects of this severe condition is warranted.
Highlights
Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax
The symptoms of insufficient gas exchange are associated with those of persistent pulmonary hypertension [12,13] caused by arteriolar constriction and closure of the pulmonary arterial bed that forces maintenance of a pattern of persistent fetal circulation in which the blood from the right ventricle is shunted to the left heart preventing effective gas exchange
The diaphragmatic orifice is invariably accompanied by pulmonary hypoplasia with vascular hyper-reactivity that causes deficient gas exchange and persistent pulmonary hypertension
Summary
CDH is a complex condition probably caused by disturbed molecular signaling during organogenesis. The diaphragmatic orifice is invariably accompanied by pulmonary hypoplasia with vascular hyper-reactivity that causes deficient gas exchange and persistent pulmonary hypertension. Other malformations that further complicate the clinical course may be present. All efforts are directed at enhancing antenatal lung growth in prenatally diagnosed cases and at protecting the lung during the intensive care pre and post-operative phases in all cases. Fetoscopic reversible tracheal obstruction seems promising before birth and gentle ventilation with occasional ECMO use yields the best results post-natally. Many aspects of the disease are still unknown and, given that the incidence is relatively high, that the expenses involved in the current treatments are overwhelming and that the sequelae are frequent, more research efforts into causation, prevention and treatment are warranted. Competing interests The author declares that they have no competing interests
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